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The  na'onal  bioinforma'cs  infrastructure  www.scilifelab.se/pla7orms/bioinforma'cs/  

Björn  Nystedt,  bjorn.nystedt@scilifelab.se  Bioinforma'cs  Long-­‐term  Support  (a.k.a.WABI)    

The  Bioinforma'cs  pla7orm  

SciLifeLab  

Na'onal  Genomics  Infrastructure  

Bioinforma'cs  

Joakim  Lundeberg  Ann-­‐Chris'ne  Syvänen  Ulf  Gyllensten  

Bengt  Persson  

Clinical  Diagnos'cs  

…  

Ongoing  merge  of  BILS,  WABI  and  more;  complete  2016.    Na'onal,  distributed    

Sequencing  

NGI    

BIOINFORMATICS  

Supercomputer  center  

Genomics  development    Lab                                                Bioinfo    

Genomics  accounts  

Customer  project  accounts  

Project  support  and  tools  development  

PREDEFINED  ANALYSES   CUSTOM-­‐TAILORED  ANALYSES  

GENOMICS  DELIVERY  

Deliverables  2014  Consultancy  and  Training    •  Con'nuing  providing  advanced  bioinforma'cs  support  to  projects  na'on-­‐wide  and  maintaining  

(old)  and  building  (new)  domain-­‐specific  competence  •  Expand  into  new  competence  areas  (e.g.  Integra've  bioinforma'cs  /  Big  Data)    •  Genome  annota'on  pla7orm  used  in  at  least  3  new  projects  •  Delivering  success  stories  within  our  supported  research  projects  •  Drop-­‐in  bioinforma'cs  consultancy  at  SciLifeLab  •  Provide  advanced  training  in  10+  courses  na'on-­‐wide  

Infrastructure  •  Provision  of  a  respository  of  good/useful  scripts  •  Secure  system  for  compute  and  storage  Mosler  •  Produc'on  system  for  SciLifeLab  pla7orms,  providing  redundant  HPC  resources  w/  high  availability  •  User-­‐friendly  interface  towards  UPPNEX  compute  resources  •  Prototype  system  for  cloud  compu'ng  in  bioinforma'cs  

Interna8onal  •  Integra'on  of  the  Human  Protein  Atlas  (HPA)  into  ELIXIR  as  Swedish  node  contribu'on  •  Hos'ng  the  European  ELIXIR  Heads-­‐of-­‐Nodes  mee'ng  in  May  

Organisa8onal  •  Integrate  all  ac'vi'es  as  a  Na'onal  Bioinforma'cs  Infrastructure;    Regular  pla7orm  mee'ngs  •  Coordina'on  mee'ngs  with  genomics  pla7orms  

Bioinforma'cs  Pla7orm  provides  custom-­‐tailored  analyses  

 •  Study  design  consulta'on  (free)    

support@bils.se    

•  Short-­‐term  support  (≤80h;  free;  first  come  first  serve)  •  Medium-­‐term  support  (>80h;  user  fee;  first  come  first  serve)  

hjp://bils.se/resources/suppor7orm/index.php    •  Long-­‐term  support  (500h;  free:  scien'fic  evalua'on)  

hjp://www.scilifelab.se/facili'es/wabi/        

•  Compute  and  storage  (free;  majority  of  hardware  and    system  administra'on  belongs  to  SNIC)  hjp://www.uppmax.uu.se/  

 

Next  deadline  for  applica'ons  Feb  27!  

Growth  (Numbers  from  BILS)  

0  

100  

200  

300  

400  

500  

600  

700  

800  

900  

1000  

2011   2012   2013   2014   2015   2016   2017   2018  

Staff  

Projects  

PI  

Distribu8on  of  PIs  in  projects  in  2013  

KI,  38  

UU,  37  

SU,  17  

KTH,  9  

GU,  28  LU,  28  

UmU,  23  

LiU,  22  

NRM,  22  

SLU,  11  

Chalmers,  6  Sahlgrenska  University  

Hospital,  3  

NGI,  2  

AstraZeneca,  1   FOI,  1   LTH,  1  Norrlands  Universitetssjukhus,  1  Polismyndigheten,  1  

SVA,  1   WABI,  1   ÖrU,  1  

~400  short-­‐term  projects/year  ~20  long-­‐term  projects/year  

2014:  Over  450  ac've  projects  from  all  over  Sweden  

2004 2005 2006 2007 2008 2009 2010 2011 2012 2013

100

200

300

400 Active Projects

Num

ber o

f act

ive p

roje

cts

UPPMAXUPPNEX

Other  research  fields  

Integrated  in  Swedish  e-­‐Science  infrastructure  

2014:  Over  450  ac've  projects  from  all  over  Sweden  

Large  sequencing  projects  use  UPPNEX  

Short-­‐term  Support  and  Infrastructure  BILS  –  Bioinforma8cs  Infrastructure  for  Life  Sciences  

www.scilifelab.se/facili8es/bils/    

Bengt Mikael Fredrik Persson Borg Levander

Technical Proteomics Director coordinator coordinator •  BILS is a distributed national research

infrastructure supported by the Swedish Research Council (VR) •  Nodes at each of the 6 large univerisities •  Coordination with other bioinformatics activities •  Training activities, annual symposium/user meeting

•  BILS provides •  Support/Consultancy (“human eCloud” for life sciences)

80 hours for free, additional hours for a subsidised fee •  Databases and software tools

Computing and storage in collaboration with SNIC

•  BILS coordinates the Swedish node in the European infrastructure for biological information ELIXIR

•  Annual budget ~3.5 MEUR (2014)

•  ~2.2 MEUR from Swedish Research Council •  ~1.3 MEUR from SciLifeLab and

participating universities

Syst. development Training Genomics coordinators coordinator coordinator

Magnus Henrik Jonas Sara Alm-Rosenblad Lantz Hagberg Light

Long-­‐term  Support  Wallenberg  Advanced  Bioinforma8cs  Infrastructure  

www.scilifelab.se/facili8es/wabi/  

Björn  Nystedt   Thomas  Svensson  

Tailored  solu-ons  –    high  impact  

Siv  Andersson   Gunnar  von  Heijne  

Applied  bioinforma'cs:  500h  free  support/project  •  Variant  analyses  in  health  and  disease  •  Transcriptomics  •  Novel  genomes    •  Metagenomics      

Directors    

Managers  Swedens  strongest  unit  for  analyses  of    large-­‐scale  genomic  data  (13  FTE,  increasing)  

Na'onal  commijee  reviews  and  selects  projects  based  on  scien'fic  quality  

Annota'on  is  a  complex,  'me-­‐consuming  process  

Producing  an  annota'on  for  a  vertebrate  genome  can  take  months  

Requires  both  experience  and  computa'onal  infrastructure    

Which  data  do  I  combine  in  what  ways  to  achieve  op'mal  results?  

What  pipelines  are  available  and  how  do  I  set  them  up?  

What  computa'onal  resources  are  required?  Do  I  have  the  capability  to  develop  custom  solu'ons  if  my  data  requires  it?  

Is  using  my  grant  money  to  train  someone  a  good  long-­‐term  investment  for  me?  

The    BILS  genome  annota8on  and  assembly  plaQorm  

Teaching  

www.scilifelab.se/educa'on/courses/  

2015-­‐04-­‐07  -­‐  2015-­‐04-­‐09,  Course  |  Uppsala    RNA-­‐seq,  1  hp      2015-­‐04-­‐27  -­‐  2015-­‐04-­‐28,  Course  |  Uppsala    Introduc8on  to  Genome  Annota8on,  1  hp      2015-­‐05-­‐18  -­‐  2015-­‐05-­‐23,  Course  |  Uppsala    Perl  Programming  with  Applica8on  to  Bioinforma8cs,  2  hp      

The  Swedish  Bioinforma'cs  Advisory  Program    

A  new  teaching  model,  where  PhD  students  get  a  senior  bioinforma'cian  as  a  personal  advisor  during  2  years  of  their  PhD.      Three  grand  mee'ngs  per  year  with  all  the  students,  and  their  advisors  and  PhD  supervisors,  to  aid  networking  and  knowledge  transfer.      First  call  late  2014:    >50  applicants  for  15  places  Next  call  late  2015    www.scilifelab.se/educa'on/mentorship/the-­‐swedish-­‐bioinforma'cs-­‐advisory-­‐program/    

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